Wang Yun, Li Xin, Zhu Wen-li
Shijingshan District Center for Disease Prevention and Control, Beijing 100043, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2011 Jun 18;43(3):333-7.
To find chromosome region closely linked to nonsyndromic cleft lip with or without palates (NSCL±P) by genome-wide scan and linkage analysis for two multiplex families.
Whole-genome scan and fine genome scan were used to analyse multiplex families members, and parametric, nonparametric and interaction statistical analysis software to determine which chromosomal section was linked to the genetic disease.
Both parametric and nonparametric linkage scores increased by a big margin over the initial linkage scores on 1q32.2-41. Although parametric results were not significant, nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p25.1-24.2. The multiplicative model gave the strongest evidence for interaction in 1q32.2-41 and 2p25.1-24.2.
Parametric and nonparametric linkage analyses for 2 NSCL±P multiplex families show that there may be candidate regions on chromosome 1q32.2-41 and 2p25.1-24.2.The two regions of 1q32.2-41 and 2p25.1-24.2 may contribute to NSCL±P risks with interaction.
通过对两个多重家庭进行全基因组扫描和连锁分析，寻找与非综合征性唇裂伴或不伴腭裂（NSCL±P）紧密连锁的染色体区域。
采用全基因组扫描和精细基因组扫描对多重家庭成员进行分析，并使用参数、非参数和交互统计分析软件来确定与该遗传病连锁的染色体区段。
在1q32.2 - 41区域，参数和非参数连锁评分均比初始连锁评分大幅提高。虽然参数分析结果不显著，但非参数连锁分析为2p25.1 - 24.2染色体上的一个候选区域提供了有力证据。乘法模型为1q32.2 - 41和2p25.1 - 24.2区域的交互作用提供了最强证据。
对两个NSCL±P多重家庭进行的参数和非参数连锁分析表明，1q32.2 - 41和2p25.1 - 24.2染色体上可能存在候选区域。1q32.2 - 41和2p25.1 - 24.2这两个区域可能通过交互作用增加NSCL±P的发病风险。
